Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.V73fs
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TRNT1

NM_182916.3:p.V73fs

Associated Papers

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).

Li Y et al.

Journal of Clinical Immunology, 2023

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

DeLuca AP et al.

Human Molecular Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."